| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | PMM2-congenital disorder of glycosylation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene